Canonical Allele Identifier: CA2263905685
Community Standard Title: NM_000023.4(SGCA):c.524T= (p.Val175=)
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168512T= , CM000679.2:g.50168512T= GRCh38
NC_000017.10:g.48245873T= , CM000679.1:g.48245873T= GRCh37
NC_000017.9:g.45600872T= NCBI36
NG_008889.1:g.7508T= , LRG_203:g.7508T=

Transcript Alleles

HGVS Amino-acid Change
NM_000023.4:c.524T= MANE Select NP_000014.1:p.Val175=
ENST00000262018.8:c.524T= MANE Select ENSP00000262018.3:p.Val175=
NM_000023.2:c.524T= , LRG_203t1:c.524T= NP_000014.1:p.Val175=
NM_000023.3:c.524T= NP_000014.1:p.Val175=
NM_001135697.1:c.524T= NP_001129169.1:p.Val175=
NM_001135697.2:c.524T= NP_001129169.1:p.Val175=
NM_001135697.3:c.524T= NP_001129169.1:p.Val175=
NR_135553.1:n.580T=
NR_135553.2:n.560T=
ENST00000262018.7:c.524T= ENSP00000262018.3:p.Val175=
ENST00000344627.10:c.524T= ENSP00000345522.6:p.Val175=
ENST00000502555.5:c.*183T= ENSP00000422817.1:n.*183T=
ENST00000504073.2:c.524T= ENSP00000422030.2:p.Val175=
ENST00000511303.5:c.245T= ENSP00000426104.1:p.Val82=
ENST00000511303.6:n.249T=
ENST00000512526.1:c.359T=
ENST00000512526.2:c.515T= ENSP00000426606.2:n.515T=
ENST00000513821.5:c.524T= ENSP00000426571.1:p.Val175=
ENST00000513942.5:n.315T=
ENST00000514934.1:c.*230T= ENSP00000423168.1:n.*230T=
ENST00000682109.1:c.404T= ENSP00000508041.1:p.Val135=
ENST00000683226.1:n.234T=
ENST00000683294.1:c.524T= ENSP00000508134.1:p.Val175=
XM_011525120.1:c.524T= XP_011523422.1:p.Val175=
XM_011525120.2:c.686T= XP_011523422.2:p.Val229=
XM_011525121.1:c.524T= XP_011523423.1:p.Val175=
XM_011525121.2:c.686T= XP_011523423.2:p.Val229=
XM_011525122.1:c.524T= XP_011523424.1:p.Val175=
XM_011525122.2:c.686T= XP_011523424.2:p.Val229=
XM_011525123.1:c.524T= XP_011523425.1:p.Val175=
XM_011525123.2:c.686T= XP_011523425.2:p.Val229=
XM_011525124.1:c.218T= XP_011523426.1:p.Val73=
XM_011525124.2:c.218T= XP_011523426.1:p.Val73=
XM_024450873.1:c.218T= XP_024306641.1:p.Val73=
XR_002958056.1:n.1042T=
XR_934517.1:n.590T=